Associated Papers
SLC25A38 is required for mitochondrial pyridoxal 5'-phosphate (PLP) accumulation.
Pena IA et al.
Nature Communications, 2025
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Heeney MM et al.
Human Mutation, 2021
Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38.
Uminski K et al.
Pediatric Blood & Cancer, 2020
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.
An W et al.
Journal of Hematology & Oncology, 2015
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
Kannengiesser C et al.
Haematologica, 2011
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